Fig. 1: Bioinformatics pipeline to identify cancer-associated genetically influenced DNA methylation biomarkers (CpGs).

The pipeline involves three steps including imputation-based and conventional methylome-wide association analyses using GWAS summary statistics and TCGA datasets, respectively, in the discovery step, enrichment testing and identification of an enriched set of cancer-associated CpGs in the overlap step, and lastly, functional characterisation of the CpGs, differential expression and pathway analysis of the genes associated to the CpGs, and genetic analyses in the characterisation step. CpGs cytosine-phosphate-guanine sites, DM differentially methylated, MeWAS methylome-wide association study, NAT histologically normal tissue adjacent to the tumour.